Next-generation sequencing of Chinese stage IV lung cancer patients reveals an association between EGFR mutation status and survival outcome.

abstract：:An analysis was performed on 40 families at risk for an unbalanced rearrangement in the fetus because one of the parents is a reciprocal translocation carrier. The overall risk at second trimester prenatal diagnosis was 14% (8/57). The individual risk for unbalanced offspring at second trimester prenatal diagnoses and...

journal_title：Clinical genetics

authors： Barisić I,Zergollern L,Muzinić D,Hitrec V

更新日期：1996-03-01 00:00:00

abstract：:FLNC-related myofibrillar myopathy could manifest as autosomal dominant late-onset slowly progressive proximal muscle weakness; involvements of cardiac and/or respiratory functions are common. We describe 34 patients in nine families of FLNC-related myofibrillar myopathy in Hong Kong ethnic Chinese diagnosed over the ...

journal_title：Clinical genetics

authors： Lee HH,Wong S,Sheng B,Pan NK,Leung YF,Lau KD,Cheng YS,Ho LC,Li R,Lee CN,Tsoi TH,Cheung YN,Fu YM,Kan NA,Chu YP,Au WL,Yeung HJ,Li SH,Cheung CM,Tong HF,Hung LE,Chan TY,Li CT,Tong TT,Tong TC,Leung HC,Lee K

更新日期：2020-05-01 00:00:00

abstract：:Parkinson's disease (PD) is characterized by major alterations of neurotransmitter activity due to damage of the substantia nigra. Changes in neuropeptide concentration within the basal ganglia may play an important role in the putative dopaminergic-peptidergic interactions associated with the disease. Cholecystokinin...

journal_title：Clinical genetics

authors： Fujii C,Harada S,Ohkoshi N,Hayashi A,Yoshizawa K,Ishizuka C,Nakamura T

更新日期：1999-11-01 00:00:00

abstract：:We investigated whether an association exists between genetic variants of the human obesity (OB or leptin) gene and body mass index (BMI) or weight in subjects with Prader Willi syndrome (PWS) and in age- and gender-matched lean and obese subjects without PWS. The study included 51 subjects with PWS (mean age = 17.7 +...

journal_title：Clinical genetics

authors： Butler MG,Hedges L,Hovis CL,Feurer ID

更新日期：1998-11-01 00:00:00

abstract：:In the Arab population of Kuwait of approximately 1.3 million, 26 cases in 15 families were ascertained to have Bardet-Biedl syndrome (20 cases in 13 families) or Laurence-Moon syndrome (6 cases in 2 families). The apparently increased frequency of these interrelated autosomal recessive syndromes in Arabs is discussed...

journal_title：Clinical genetics

authors： Farag TI,Teebi AS

更新日期：1988-02-01 00:00:00

abstract：:The ability of statins to strongly reduce low-density lipoprotein cholesterol (LDL-C) varies interindividually and is partially influenced by genetic variants. Based on a comprehensive analysis of 23 single nucleotide polymorphisms (SNPs) known to be associated with pharmacokinetics and dynamics of statins, we develop...

journal_title：Clinical genetics

authors： Ciuculete DM,Bandstein M,Benedict C,Waeber G,Vollenweider P,Lind L,Schiöth HB,Mwinyi J

更新日期：2017-03-01 00:00:00

abstract：:Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). We present five patients with mutations in MAGEL2, including the first patient reported with a missense variant, adding to the limited literature. Further, we performed a sys...

journal_title：Clinical genetics

authors： Patak J,Gilfert J,Byler M,Neerukonda V,Thiffault I,Cross L,Amudhavalli S,Pacio-Miguez M,Palomares-Bralo M,Garcia-Minaur S,Santos-Simarro F,Powis Z,Alcaraz W,Tang S,Jurgens J,Barry B,England E,Engle E,Hess J,Lebel RR

更新日期：2019-12-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. Three genes are implicated in causing ADPKD. One on chromosome 16, PKD1, accounts for 85-90% of al...

journal_title：Clinical genetics

authors： Deltas CC,Christodoulou K,Tjakouri C,Pierides A

更新日期：1996-07-01 00:00:00

abstract：:The mitochondrial 1555A>G mutation is one of the most common mutations responsible for hearing loss in Asians. Although the association with aminoglycoside exposure is well known, there is great variation in the severity of hearing loss. We analyzed hearing levels in 221 Japanese individuals with this mutation and att...

journal_title：Clinical genetics

authors： Lu SY,Nishio S,Tsukada K,Oguchi T,Kobayashi K,Abe S,Usami S

更新日期：2009-05-01 00:00:00

abstract：:A new type of mesomelic dwarfism in two male siblings and their father is presented. The responsible mutant gene manifests itself phenotypically as a severe dysostosis of the tibia with shortening, bowing and pseudarthrosis and as a mild dysostosis of the radius. The fibulae and ulnae are secondarily affected, but the...

journal_title：Clinical genetics

authors： Leroy JG,De Vos J,Timmermans J

更新日期：1975-04-01 00:00:00

abstract：:Usher syndrome type III is an autosomal recessive disorder clinically characterized by the association of retinitis pigmentosa (RP), variable presence of vestibular dysfunction and progressive hearing loss, being the progression of the hearing impairment the critical parameter classically used to distinguish this form...

journal_title：Clinical genetics

authors： Aller E,Jaijo T,Oltra S,Alió J,Galán F,Nájera C,Beneyto M,Millán JM

更新日期：2004-12-01 00:00:00

abstract：:Linkage analysis has been performed on a large South African family of British origin in which 39 persons in 6 generations had early onset Type I autosomal dominant retinitis pigmentosa (ADRP). Tight linkage was excluded between the disease and the D3S47 locus on chromosome 3. This finding is further evidence for gene...

journal_title：Clinical genetics

authors： Greenberg J,Babaya M,Ramesar R,Beighton P

更新日期：1992-06-01 00:00:00

abstract：:Phenotypic variations in α-thalassemia mainly depend on the defective α-globin gene number. Genetic modifiers of the phenotype of Hemoglobin H (HbH) disease were poorly reported, apart from β-thalassemia allele that was identified ameliorating the severity of α-thalassemia. Because erythroid Krüppel-like factor (KLF1)...

journal_title：Clinical genetics

authors： Yu LH,Liu D,Cai R,Shang X,Zhang XH,Ma XX,Yan SH,Fang P,Zheng CG,Wei XF,Liu YH,Zhou TB,Xu XM

更新日期：2015-07-01 00:00:00

abstract：:Two patients with the oro-facial-digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial polysyndactyly of the feet. Those rare malformations are typically observed in patients with the Majewski syndrome, a lethal, short rib-polydactyly skeletal dysplasia with orofacial findings a...

journal_title：Clinical genetics

authors： Silengo MC,Bell GL,Biagioli M,Franceschini P

更新日期：1987-05-01 00:00:00

abstract：BACKGROUND:Array-comparative genomic hybridization (array-CGH) is a widely used technique to detect copy number variants (CNVs) associated with developmental delay/intellectual disability (DD/ID). AIMS:Identification of genomic disorders in DD/ID. MATERIALS AND METHODS:We performed a comprehensive array-CGH investiga...

journal_title：Clinical genetics

authors： Di Gregorio E,Riberi E,Belligni EF,Biamino E,Spielmann M,Ala U,Calcia A,Bagnasco I,Carli D,Gai G,Giordano M,Guala A,Keller R,Mandrile G,Arduino C,Maffè A,Naretto VG,Sirchia F,Sorasio L,Ungari S,Zonta A,Zacchetti

更新日期：2017-10-01 00:00:00

abstract：:The clinical impact of duplications affecting the 11p15.5 region is difficult to predict, and depends on the parent-of-origin of the affected allele as well as on the type (deletion, duplication), the extent and genomic content of the variant. Three unrelated families with inheritance of duplications affecting the IC1...

journal_title：Clinical genetics

authors： Eggermann T,Kraft F,Kloth K,Klopocki E,Hüning I,Hempel M,Kunstmann E

更新日期：2020-10-01 00:00:00

abstract：:In a country-wide screening examination in Sweden, PKU was observed in 75 (4.5 per 1,000) and hyperphenylalaninemia in 14 (0.8 per 1,000) of a total of 16,805 patients in institutions for the mentally retarded. In the national neonatal screening program in 1965-1975, which covered nearly 1 million individuals, PKU was...

journal_title：Clinical genetics

authors： Holmgren G,Larsson A,Palmstierna H,Alm J

更新日期：1976-12-01 00:00:00

abstract：:An allele association study of 19 polymorphisms in surfactant proteins SP-A1, SP-A2, SP-B, and SP-D genes in acute respiratory distress syndrome (ARDS) was carried out. Trend-test analysis revealed differences (p < 0.05) in the frequency of alleles for some of the microsatellite markers flanking SP-B, and for one poly...

journal_title：Clinical genetics

authors： Lin Z,Pearson C,Chinchilli V,Pietschmann SM,Luo J,Pison U,Floros J

更新日期：2000-09-01 00:00:00

abstract：:Here we report two families with myotonic dystrophy (DM) in which the asymptomatic parent proved to be in a pre-mutation state. Polymerase chain reaction (PCR) analysis of the region spanning the CTG expansion demonstrated that one father of the proband possessed (CTG)n repeats of n = 12 and 44 copies and the other of...

journal_title：Clinical genetics

authors： Yamagata H,Kinoshita M,Komori T,Kondo I,Miki T

更新日期：1998-10-01 00:00:00

abstract：:Despite a wide range of clinical tools, the etiology of mental retardation and multiple congenital malformations remains unknown for many patients. Array-based comparative genomic hybridization (aCGH) has proven to be a valuable tool in these cases, as its pangenomic coverage allows the identification of chromosomal a...

journal_title：Clinical genetics

authors： D'Amours G,Kibar Z,Mathonnet G,Fetni R,Tihy F,Désilets V,Nizard S,Michaud JL,Lemyre E

更新日期：2012-02-01 00:00:00

abstract：:Array comparative genomic hybridization (aCGH) has progressively replaced conventional karyotype in the diagnostic strategy of intellectual disability (ID) and congenital malformations. This technique increases not only the diagnostic rate but also the possibility of finding unexpected variants unrelated to the indica...

journal_title：Clinical genetics

authors： Nguyen K,Putoux A,Busa T,Cordier MP,Sigaudy S,Till M,Chabrol B,Michel-Calemard L,Bernard R,Julia S,Malzac P,Labalme A,Missirian C,Edery P,Popovici C,Philip N,Sanlaville D

更新日期：2015-05-01 00:00:00

abstract：:Hereditary hair loss in human is a group of clinically and genetically heterogeneous disorders. It is characterized by sparse to complete absence of hair on the scalp and other parts of the body. In few cases tightly curled twisted wooly hair (WH) on the scalp has been reported as well. The hair loss disorders, includ...

journal_title：Clinical genetics

authors： Basit S,Khan S,Ahmad W

更新日期：2015-09-01 00:00:00

abstract：:A psoriatic osteoarthropathy localized in the left quadrant of a male patient is described. Diagnosis was made on the basis of bone scintigraphy (specific distribution pattern) and histological evaluation of a bone biopsy. There is no indication of psoriasis in the patient's family. Nor is there an association to psor...

journal_title：Clinical genetics

authors： Holzmann H,Schmitt M,Happle R,Kaltwasser P,Hör G

更新日期：1994-08-01 00:00:00

abstract：:4-Methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyranoside was synthesized and tested as a substrate for the diagnosis of GM2 gangliosidoses using leukocytes. Less than 2% of normal activity was measured in homogenates from patients with typical Tay-Sachs disease and from a patient with a variant form hav...

journal_title：Clinical genetics

authors： Inui K,Wenger DA

更新日期：1984-10-01 00:00:00

abstract：:Autosomal dominant hereditary polycystic kidney disease (ADPKD) is the most common inherited kidney disease that causes end-stage renal disease and kidney failure. Preimplantation genetic testing for monogenic (PGT-M) can effectively prevent the transmission of genetic diseases from parents to the offspring before pre...

journal_title：Clinical genetics

authors： Shi H,Niu W,Liu Y,Jin H,Song W,Shi S,Yao G,Xu J,Sun Y

更新日期：2021-02-01 00:00:00

abstract：:A de novo interstitial duplication of the 6q11-q15 chromosome region, confirmed by the application of a chromosome 6 painting probe, was observed in a patient with craniofacial dysmorphism, psychomotor retardation, cryptorchidism and hypospadias. Despite the publication of several cases showing partial trisomy 6q, to ...

journal_title：Clinical genetics

authors： Giardino D,Rizzi N,Briscioli V,Bettio D

更新日期：1994-11-01 00:00:00

abstract：:A family is reported with an autosomal dominant inherited syndrome presenting some of the typical features of the tricho-rhino-phalangeal syndrome type II (TRP II) or Langer-Giedion syndrome. The critical region for the expression of the syndrome seems to be at band 8q24.1. In the affected members of the family report...

journal_title：Clinical genetics

authors： Shabtai F,Sandowski U,Nissimov R,Klar D,Halbrecht I

更新日期：1985-06-01 00:00:00

abstract：:The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct morphology and combination of AVCD features in some of these syndr...

journal_title：Clinical genetics

authors： Digilio MC,Pugnaloni F,De Luca A,Calcagni G,Baban A,Dentici ML,Versacci P,Dallapiccola B,Tartaglia M,Marino B

更新日期：2019-02-01 00:00:00

abstract：:Previous studies have investigated the close association that exists between CAG repeat number and the age at onset in SCA2 = spinocerebellar ataxia type 2. These studies have focused on affected individuals. To further characterize this association and estimate the risk of a carrier developing SCA2 at a particular ag...

journal_title：Clinical genetics

authors： Almaguer-Mederos LE,Falcón NS,Almira YR,Zaldivar YG,Almarales DC,Góngora EM,Herrera MP,Batallán KE,Armiñán RR,Manresa MV,Cruz GS,Laffita-Mesa J,Cyuz TM,Chang V,Auburger G,Gispert S,Pérez LV

更新日期：2010-08-01 00:00:00

abstract：:Myotonic dystrophy (MD) is an autosomal dominant disorder that has a high prevalence in Saguenay-Lac-St-Jean. A case-control study, based on a population register, of 373 MD patients who married in this region between 1855 and 1971 was conducted to determine whether their fertility was affected by the disorder. Six de...

journal_title：Clinical genetics

authors： Dao TN,Mathieu J,Bouchard JP,De Braekeleer M

更新日期：1992-11-01 00:00:00